Incidental Mutation 'R2024:Flg'
ID |
220228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flg
|
Ensembl Gene |
ENSMUSG00000102439 |
Gene Name |
filaggrin |
Synonyms |
profilaggrin, ft, fillagrin |
MMRRC Submission |
040033-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.371)
|
Stock # |
R2024 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
93180853-93200996 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93186722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 58
(M58K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178008]
[ENSMUST00000178695]
[ENSMUST00000178752]
[ENSMUST00000180308]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122125
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148311
AA Change: M58K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141768 Gene: ENSMUSG00000081977 AA Change: M58K
Domain | Start | End | E-Value | Type |
Pfam:S_100
|
4 |
47 |
1.1e-15 |
PFAM |
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
low complexity region
|
111 |
117 |
N/A |
INTRINSIC |
low complexity region
|
288 |
337 |
N/A |
INTRINSIC |
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178008
|
SMART Domains |
Protein: ENSMUSP00000141981 Gene: ENSMUSG00000102439
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
63 |
N/A |
INTRINSIC |
low complexity region
|
91 |
106 |
N/A |
INTRINSIC |
low complexity region
|
112 |
132 |
N/A |
INTRINSIC |
low complexity region
|
141 |
168 |
N/A |
INTRINSIC |
low complexity region
|
173 |
204 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178695
|
SMART Domains |
Protein: ENSMUSP00000141392 Gene: ENSMUSG00000102439
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
66 |
N/A |
INTRINSIC |
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
low complexity region
|
115 |
135 |
N/A |
INTRINSIC |
low complexity region
|
144 |
207 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178752
|
SMART Domains |
Protein: ENSMUSP00000141273 Gene: ENSMUSG00000102439
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
59 |
N/A |
INTRINSIC |
low complexity region
|
87 |
102 |
N/A |
INTRINSIC |
low complexity region
|
108 |
128 |
N/A |
INTRINSIC |
low complexity region
|
137 |
200 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000180308
AA Change: M58K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142003 Gene: ENSMUSG00000102439 AA Change: M58K
Domain | Start | End | E-Value | Type |
Pfam:S_100
|
4 |
47 |
1.1e-15 |
PFAM |
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
low complexity region
|
111 |
117 |
N/A |
INTRINSIC |
low complexity region
|
288 |
337 |
N/A |
INTRINSIC |
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214837
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216295
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 90.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutations in this gene produce abnormalities in the skin of the ear, tail and dorsal trunk. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
A |
G |
15: 96,259,680 (GRCm39) |
D280G |
probably damaging |
Het |
Atosa |
A |
G |
9: 74,917,672 (GRCm39) |
D757G |
probably damaging |
Het |
Azi2 |
C |
T |
9: 117,878,390 (GRCm39) |
R77* |
probably null |
Het |
Chd8 |
T |
C |
14: 52,468,950 (GRCm39) |
D556G |
probably benign |
Het |
Cit |
T |
C |
5: 116,085,983 (GRCm39) |
M849T |
probably damaging |
Het |
Cit |
T |
C |
5: 116,143,899 (GRCm39) |
S1923P |
probably damaging |
Het |
Col17a1 |
T |
A |
19: 47,639,185 (GRCm39) |
H1120L |
probably benign |
Het |
Col6a5 |
G |
T |
9: 105,814,193 (GRCm39) |
H606Q |
unknown |
Het |
Dnajc2 |
A |
C |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
Dpp6 |
A |
G |
5: 27,914,457 (GRCm39) |
D514G |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,129,062 (GRCm39) |
S1818P |
probably damaging |
Het |
Efemp1 |
A |
T |
11: 28,864,696 (GRCm39) |
Y250F |
possibly damaging |
Het |
Emc1 |
G |
A |
4: 139,088,257 (GRCm39) |
E342K |
possibly damaging |
Het |
Fam3c |
T |
C |
6: 22,329,592 (GRCm39) |
D45G |
probably benign |
Het |
Fchsd2 |
A |
C |
7: 100,847,740 (GRCm39) |
D210A |
possibly damaging |
Het |
Gabra5 |
G |
A |
7: 57,138,698 (GRCm39) |
R117C |
probably damaging |
Het |
Gm6741 |
G |
A |
17: 91,544,309 (GRCm39) |
S24N |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,462,107 (GRCm39) |
D675G |
possibly damaging |
Het |
Hectd4 |
T |
G |
5: 121,419,981 (GRCm39) |
V642G |
possibly damaging |
Het |
Herc6 |
C |
T |
6: 57,560,317 (GRCm39) |
T119M |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hmgcs2 |
T |
C |
3: 98,206,530 (GRCm39) |
S371P |
probably damaging |
Het |
Idua |
C |
T |
5: 108,828,600 (GRCm39) |
A271V |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,623,072 (GRCm39) |
C125* |
probably null |
Het |
Krt14 |
C |
T |
11: 100,098,044 (GRCm39) |
G80R |
unknown |
Het |
Lama5 |
T |
C |
2: 179,820,923 (GRCm39) |
Y3176C |
probably benign |
Het |
Lce1k |
C |
T |
3: 92,713,809 (GRCm39) |
C125Y |
unknown |
Het |
Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
Meioc |
C |
T |
11: 102,566,184 (GRCm39) |
A600V |
probably benign |
Het |
Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
Mms22l |
A |
G |
4: 24,588,365 (GRCm39) |
Y999C |
probably damaging |
Het |
Ncbp3 |
T |
A |
11: 72,944,346 (GRCm39) |
M116K |
possibly damaging |
Het |
Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
Nkx3-1 |
T |
C |
14: 69,428,266 (GRCm39) |
I38T |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or4k49 |
T |
A |
2: 111,495,168 (GRCm39) |
M199K |
possibly damaging |
Het |
Padi6 |
T |
G |
4: 140,456,279 (GRCm39) |
I572L |
possibly damaging |
Het |
Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,746,272 (GRCm39) |
V1906A |
probably benign |
Het |
Pom121 |
T |
C |
5: 135,410,404 (GRCm39) |
|
probably benign |
Het |
Psmd9 |
T |
C |
5: 123,379,925 (GRCm39) |
F115L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,076,415 (GRCm39) |
F160L |
probably damaging |
Het |
Rhbdl2 |
A |
T |
4: 123,720,665 (GRCm39) |
R234S |
probably damaging |
Het |
Rnase2a |
T |
A |
14: 51,493,245 (GRCm39) |
Y40F |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,378,201 (GRCm39) |
V672A |
possibly damaging |
Het |
Sgpp2 |
A |
G |
1: 78,393,857 (GRCm39) |
I287V |
probably benign |
Het |
Sh3pxd2a |
T |
C |
19: 47,255,703 (GRCm39) |
E1033G |
probably benign |
Het |
Slc5a9 |
G |
A |
4: 111,747,728 (GRCm39) |
T284I |
probably damaging |
Het |
Slfn9 |
A |
G |
11: 82,872,507 (GRCm39) |
L743P |
probably damaging |
Het |
Smchd1 |
T |
A |
17: 71,677,923 (GRCm39) |
N1473I |
probably benign |
Het |
Stx1b |
A |
T |
7: 127,414,575 (GRCm39) |
D16E |
probably benign |
Het |
Tectb |
T |
C |
19: 55,170,361 (GRCm39) |
F71L |
probably damaging |
Het |
Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
Tnc |
A |
G |
4: 63,882,858 (GRCm39) |
V1921A |
probably damaging |
Het |
Ubn1 |
T |
G |
16: 4,882,487 (GRCm39) |
L316W |
probably damaging |
Het |
Vwa5a |
T |
C |
9: 38,647,357 (GRCm39) |
S579P |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,228,300 (GRCm39) |
L367P |
possibly damaging |
Het |
Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
Zfp990 |
A |
C |
4: 145,263,974 (GRCm39) |
Y324S |
possibly damaging |
Het |
|
Other mutations in Flg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01080:Flg
|
APN |
3 |
93,186,906 (GRCm39) |
missense |
probably benign |
0.41 |
FR4342:Flg
|
UTSW |
3 |
93,197,820 (GRCm39) |
unclassified |
probably benign |
|
R0046:Flg
|
UTSW |
3 |
93,185,028 (GRCm39) |
splice site |
probably benign |
|
R0046:Flg
|
UTSW |
3 |
93,185,028 (GRCm39) |
splice site |
probably benign |
|
R0538:Flg
|
UTSW |
3 |
93,186,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Flg
|
UTSW |
3 |
93,187,220 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1767:Flg
|
UTSW |
3 |
93,187,220 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2213:Flg
|
UTSW |
3 |
93,200,335 (GRCm39) |
unclassified |
probably benign |
|
R2311:Flg
|
UTSW |
3 |
93,200,260 (GRCm39) |
unclassified |
probably benign |
|
R2513:Flg
|
UTSW |
3 |
93,187,093 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3892:Flg
|
UTSW |
3 |
93,186,833 (GRCm39) |
missense |
probably benign |
0.01 |
R3911:Flg
|
UTSW |
3 |
93,187,307 (GRCm39) |
missense |
probably benign |
0.01 |
R4207:Flg
|
UTSW |
3 |
93,187,169 (GRCm39) |
missense |
probably benign |
0.10 |
R4385:Flg
|
UTSW |
3 |
93,200,316 (GRCm39) |
unclassified |
probably benign |
|
R4939:Flg
|
UTSW |
3 |
93,187,154 (GRCm39) |
missense |
probably benign |
0.00 |
R5084:Flg
|
UTSW |
3 |
93,184,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R5540:Flg
|
UTSW |
3 |
93,184,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R5925:Flg
|
UTSW |
3 |
93,186,706 (GRCm39) |
missense |
probably damaging |
0.98 |
R5972:Flg
|
UTSW |
3 |
93,186,849 (GRCm39) |
missense |
probably benign |
0.00 |
R6130:Flg
|
UTSW |
3 |
93,200,023 (GRCm39) |
unclassified |
probably benign |
|
R6144:Flg
|
UTSW |
3 |
93,190,515 (GRCm39) |
unclassified |
probably benign |
|
R6184:Flg
|
UTSW |
3 |
93,187,357 (GRCm39) |
missense |
probably benign |
0.04 |
R6230:Flg
|
UTSW |
3 |
93,186,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R6268:Flg
|
UTSW |
3 |
93,195,482 (GRCm39) |
unclassified |
probably benign |
|
R6360:Flg
|
UTSW |
3 |
93,197,908 (GRCm39) |
unclassified |
probably benign |
|
R6400:Flg
|
UTSW |
3 |
93,187,228 (GRCm39) |
missense |
probably benign |
0.41 |
R6464:Flg
|
UTSW |
3 |
93,188,688 (GRCm39) |
unclassified |
probably benign |
|
R6586:Flg
|
UTSW |
3 |
93,200,290 (GRCm39) |
unclassified |
probably benign |
|
R6685:Flg
|
UTSW |
3 |
93,186,716 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6769:Flg
|
UTSW |
3 |
93,195,630 (GRCm39) |
unclassified |
probably benign |
|
R6771:Flg
|
UTSW |
3 |
93,195,630 (GRCm39) |
unclassified |
probably benign |
|
R6948:Flg
|
UTSW |
3 |
93,195,475 (GRCm39) |
unclassified |
probably benign |
|
R7102:Flg
|
UTSW |
3 |
93,200,335 (GRCm39) |
missense |
unknown |
|
R7186:Flg
|
UTSW |
3 |
93,187,252 (GRCm39) |
nonsense |
probably null |
|
R7222:Flg
|
UTSW |
3 |
93,195,621 (GRCm39) |
missense |
unknown |
|
R7248:Flg
|
UTSW |
3 |
93,189,041 (GRCm39) |
missense |
probably benign |
0.33 |
R7702:Flg
|
UTSW |
3 |
93,200,089 (GRCm39) |
missense |
unknown |
|
R7962:Flg
|
UTSW |
3 |
93,193,984 (GRCm39) |
missense |
unknown |
|
R8109:Flg
|
UTSW |
3 |
93,197,734 (GRCm39) |
missense |
unknown |
|
R8308:Flg
|
UTSW |
3 |
93,190,586 (GRCm39) |
missense |
unknown |
|
R8322:Flg
|
UTSW |
3 |
93,191,639 (GRCm39) |
missense |
unknown |
|
R8544:Flg
|
UTSW |
3 |
93,195,448 (GRCm39) |
unclassified |
probably benign |
|
R9219:Flg
|
UTSW |
3 |
93,198,406 (GRCm39) |
missense |
possibly damaging |
0.72 |
Z1176:Flg
|
UTSW |
3 |
93,187,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGTCAGCCTGCTTAATTTG -3'
(R):5'- ACCATGCCTCCGTCTAAGATTC -3'
Sequencing Primer
(F):5'- CAGCCTGCTTAATTTGAGAAAGATGG -3'
(R):5'- ATGCCTCCGTCTAAGATTCTGTTTG -3'
|
Posted On |
2014-08-25 |